Fig. 5

Impact of population-specific structural variants on genome organization. a Number of CTCF anchors intersected by SVs of a given type identified in individuals from 5 continental groups, see Fig. 2c for box plot description. b Number of domain borders fully overlapped by SVs of a given type identified in individuals from 5 continental groups. c Enrichment/depletion of CTCF anchors and CCD boundaries with SVs divided by continental groups. CTCF motifs at CCD borders and outside CCD borders are shown for comparison. Only SVs fully covering motifs are counted as hits. d Number of gene promoters in domains covering regions in which SVs are identified. e CCD topology variability patterns by continental groups. f Number of CTCF anchors intersected by SVs of a given type identified in individuals from South Asian continental group. g Number of domain borders fully overlapped by SVs of a given type identified in individuals from South Asian continental group. h Number of homozygous SVs in individual human genomes by population. CNVs are treated as homozygous when the number of copies on both homologous chromosomes is different than in the reference (hom., homozygous). i Number of CTCF anchors intersected by homozygous SVs in individual genomes by population. j Number of CCDs containing human knockouts with CTCF (purple) or RNAPII (cyan) anchors intersected by homozygous population-specific SVs. k Homozygous SVs identified in a single human population